A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15580891



Internal ID5232753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1384207..1393062hg38UCSC Ensembl
Innerchr17:1384707..1392562hg38UCSC Ensembl
Outerchr17:1383207..1394062hg38UCSC Ensembl
chr17:1287501..1296356hg19UCSC Ensembl
Innerchr17:1288001..1295856hg19UCSC Ensembl
Outerchr17:1286501..1297356hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg388856
hg198856
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639682
Supporting Variants
SamplesNA18627
Known GenesYWHAE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15580891
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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